SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS750722169 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS750722358 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4
RS750723025 GANAB Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS750723281 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS750723746 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750724065 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS750724439 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS750724544 TMC1 Health Risk Pathogenic —
RS750724648 SKIC2 Health Risk Pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS750724856 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS750725128 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS75072667 PEX19 Health Risk Likely pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS750727201 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Inborn genetic diseases
RS750728042 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS750728463 RAI1 Health Risk Pathogenic/Likely pathogenic Smith-Magenis syndrome, RAI1-related disorder
RS750728720 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS750729151 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750730042 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS750730828 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS750731609 AIMP1 Health Risk Pathogenic Hypomyelinating leukodystrophy 3, AIMP1-related disorder
RS750731624 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS750732115 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS750732485 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS750732565 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS750734000 CTBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypotonia
RS750735308 GATA3 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hypoparathyroidism
RS750735794 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS750736741 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS750737346 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS750738167 ADGRG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750739641 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS750739758 HSD3B7 Health Risk Conflicting classifications of pathogenicity —
RS750739947 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS750740148 EP300 Health Risk Conflicting classifications of pathogenicity Multicystic kidney dysplasia, Rubinstein-Taybi syndrome due to CREBBP mutations
RS750740193 SAG Health Risk Likely pathogenic Retinitis pigmentosa 96, Retinitis pigmentosa 47
RS750740230 RETREG1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS750740421 KIAA0753 Health Risk Likely pathogenic Joubert syndrome 38, Joubert syndrome 38
RS750740765 NR2E3 Health Risk Pathogenic Cone-rod dystrophy, Enhanced S-cone syndrome
RS750740789 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS750741137 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS750741214 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS750741772 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS750743110 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750743855 TGM6 Health Risk Likely pathogenic Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS750744696 TRIOBP Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS750744790 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal dominant
RS750744914 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS750746034 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS750746661 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS750747122 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS750747932 SLC45A2 Health Risk Pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS750748531 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS750748658 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS750748828 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS750748842 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS750749323 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, Abetalipoproteinaemia
RS750750518 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750751739 ASAH1 Health Risk Likely pathogenic —
RS750752068 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750752838 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS750753011 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750754640 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS750754763 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS750755532 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS750755566 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS750755676 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS750755822 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS750756212 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS750756697 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS750756707 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS750757143 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS75075748 RET Health Risk risk factor Hirschsprung disease, susceptibility to
RS750758181 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS75076115 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS750761966 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS750762528 SETBP1 Health Risk Conflicting classifications of pathogenicity SETBP1-related disorder, Inborn genetic diseases
RS750763255 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS75076352 RET Health Risk Pathogenic Pheochromocytoma, Multiple endocrine neoplasia type 2A
RS750763722 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750764003 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, CHKB-related disorder
RS750764149 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS750764323 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS750764507 WDFY3 Health Risk Likely pathogenic Microcephaly 18, primary
RS750764548 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS750765107 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS750765152 TRIM63 Health Risk Pathogenic Idiopathic cardiomyopathy, Idiopathic cardiomyopathy
RS750765175 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS750766653 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS750767033 NDUFV1 Health Risk Pathogenic/Likely pathogenic —
RS750767043 GGCX Health Risk Pathogenic GGCX - Related Disorders, GGCX - Related Disorders
RS750767967 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS750769299 FOXE3 Health Risk Likely pathogenic —
RS750771818 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS750773513 MYH3 Health Risk Conflicting classifications of pathogenicity —
RS750773606 FLVCR2 Health Risk Conflicting classifications of pathogenicity Fowler syndrome, FLVCR2-related disorder
RS750773622 SGCB Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS750773640 MRPS34 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 32, Combined oxidative phosphorylation deficiency 32
RS750774484 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS750775106 AAAS Health Risk Pathogenic —
RS750775126 KDM5B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 65
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